Isovaleric Acidemia: A New Genetic Defect of Leucine Metabolism

Proc Natl Acad Sci U S A. 1966 Jul;56(1):236-42. doi: 10.1073/pnas.56.1.236.

MeSH terms

  • Acidosis
  • Amino Acid Metabolism, Inborn Errors*
  • Butyrates / blood
  • Caproates / blood
  • Child, Preschool
  • Chromatography, Gas
  • Coenzyme A / metabolism
  • Fatty Acids / blood
  • Female
  • Humans
  • Leucine / metabolism*
  • Male
  • Propionates / blood
  • Valerates / blood*
  • Valerates / urine

Substances

  • Butyrates
  • Caproates
  • Fatty Acids
  • Propionates
  • Valerates
  • Leucine
  • Coenzyme A